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Summary
SC4MOL DEFICIENCY
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS MCCPD
616834
OMIM = Online Medalian Inheritance of Men
488168
4q32.3
very rare
autosomal recessive
mutation in the SC4MOL gene
symptoms
blepharitis
cataract
contractures, joints
dermatitis
developmental delay
failure to thrive
hair, abnormal (thin, brittle, fine)
hypotonia
ichthyosis
mental retardation
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
onset, neonatal
pain, bones or joints
puberty, delayed or missing
short stature
laboratory finding
Cholesterol lowplasma
HDL cholesterol lowplasma
Low-density lipoprotein (LDL) lowplasma
Literature
Foschi FG,et al.Urea cycle disorders: a case report of a successful treatment with liver transplant and a literature reviewWorld J Gastroenterol21134063-40682015
Nagahara N,et al.Antioxidant enzyme, 3-mercaptopyruvate sulfurtransferase-knockout mice exhibit increased anxiety-like behaviors: a model for human mercaptolactate-cysteine disulfiduria.Sci Rep3019862013
Ah Mew N,et al.Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.J Pediatr1652401-4032014